Special

HsaINT0175985 @ hg38

Intron Retention

Gene
ENSG00000197355 | UAP1L1
Description
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 [Source:HGNC Symbol;Acc:HGNC:28082]
Coordinates
chr9:137077501-137078254:+
Coord C1 exon
chr9:137077501-137077821
Coord A exon
chr9:137077822-137078049
Coord C2 exon
chr9:137078050-137078254
Length
228 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGC
5' ss Score
10.22
3' ss Seq
CACGGCGCCCGTACCCCCAGGTT
3' ss Score
8.15
Exon sequences
Seq C1 exon
CGAGTGCCGACTTGACAGACGGCAGCGGCGACATGGCTTCGGAGCAGGACGTGCGCGCCCGGCTGCAGCGCGCTGGCCAGGAGCACCTCCTGCGCTTCTGGGCCGAGCTGGCGCCGGAGCCACGAGCCGCGCTGCTGGCGGAGCTGGCGCTGCTGGAGCCCGAGGCGCTGCGCGAGCACTGCCGGCGGGCGGCGGAGGCCTGCGCGCGCCCCCACGGCCCGCCGCCCGACTTGGCCGCGCGCCTGCGGCCCCTGCCCCCAGAGCGCGTGGGCAGGGCCAGCCGCAGCGACCCCGAGACACGGCGGCGCTGGGAGGAGGAAG
Seq A exon
GTAAGCGGGGTGGGAGGCCCTGGGGGCCGGCAGGGGGTCGTGCCCACGGAGCGGGTGGGAACCGAGGCCGCGCTCGGGGAACTGTAGTTCTCCTCGCTACTTTGAGACGTGTCTCGCCTCACGCGTTCCGGCCCCCGAGTCCTGGCGCCCCAGCCCCAGAGTTGGTTTCCCCTAAAGCGGAAGGGTGGGCGGGTCCCGGGCGTCCCTTCACGGCGCCCGTACCCCCAG
Seq C2 exon
GTTTCCGTCAGATTTCTCTGAACAAGGTGGCCGTCCTGCTGCTGGCTGGGGGGCAGGGCACTCGCCTGGGCGTGACCTACCCCAAGGGTATGTACCGTGTGGGGCTGCCCAGCCGGAAGACCCTGTACCAGCTGCAGGCGGAGCGGATTCGGCGGGTGGAGCAGCTGGCCGGTGAGCGCCACGGGACCCGCTGCACCGTCCCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197355:ENST00000409858:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.562 A=NA C2=0.029
Domain overlap (PFAM):

C1:
PF0170413=UDPGP=PU(4.2=16.5)
A:
NA
C2:
PF0170413=UDPGP=FE(17.8=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGGCCAGGAGCACCTC
R:
ACGGCCACCTTGTTCAGAGAA
Band lengths:
284-512
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains